Bilateral vestibulopathy in Alexander disease type II- a case report.

ABSTRACT:

Introduction

Alexander disease (AxD) is rare leukodystrophy caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. Astrocyte dysfunction leads to myelinization disturbances and white matter damage, resulting in distinct neurological symptoms and neuroradiological findings.

Case report

Our patient, a 46-year old male, showed typical symptoms of AxD, including myoclonus of the soft palate, nystagmus, and cerebellar ataxia, as well as typical radiological findings found in AxD. The results of a device-based vestibular examination, including a video head-impulse test, showed a bilaterally decreased gain of vestibulo-ocular reflex of all semicircular canals suggestive of a bilateral vestibulopathy (BVP), a novel aspect of AxD. Symptomatic treatment of cerebellar

SUBMITTER: Hofmann JB 

PROVIDER: S-EPMC12321943 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature